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单分子测序和光学作图得到了具有染色体级连续性的改良林地草莓( Fragaria vesca )基因组。

Single-molecule sequencing and optical mapping yields an improved genome of woodland strawberry (Fragaria vesca) with chromosome-scale contiguity.

机构信息

Department of Horticulture, Ecology, Evolutionary Biology, and Behavior, Department of Plant Biology, and Center for Genomics Enabled Plant Science, Michigan State University, East Lansing, Michigan, 48823.

Ecology, Evolutionary Biology, and Behavior, Department of Plant Biology, and Center for Genomics Enabled Plant Science, Michigan State University, East Lansing, Michigan, 48823.

出版信息

Gigascience. 2018 Feb 1;7(2):1-7. doi: 10.1093/gigascience/gix124.

Abstract

BACKGROUND

Although draft genomes are available for most agronomically important plant species, the majority are incomplete, highly fragmented, and often riddled with assembly and scaffolding errors. These assembly issues hinder advances in tool development for functional genomics and systems biology.

FINDINGS

Here we utilized a robust, cost-effective approach to produce high-quality reference genomes. We report a near-complete genome of diploid woodland strawberry (Fragaria vesca) using single-molecule real-time sequencing from Pacific Biosciences (PacBio). This assembly has a contig N50 length of ∼7.9 million base pairs (Mb), representing a ∼300-fold improvement of the previous version. The vast majority (>99.8%) of the assembly was anchored to 7 pseudomolecules using 2 sets of optical maps from Bionano Genomics. We obtained ∼24.96 Mb of sequence not present in the previous version of the F. vesca genome and produced an improved annotation that includes 1496 new genes. Comparative syntenic analyses uncovered numerous, large-scale scaffolding errors present in each chromosome in the previously published version of the F. vesca genome.

CONCLUSIONS

Our results highlight the need to improve existing short-read based reference genomes. Furthermore, we demonstrate how genome quality impacts commonly used analyses for addressing both fundamental and applied biological questions.

摘要

背景

尽管大多数具有重要农业价值的植物物种都有草案基因组,但大多数都是不完整的、高度碎片化的,并且经常存在组装和支架错误。这些组装问题阻碍了功能基因组学和系统生物学工具的发展。

发现

在这里,我们利用一种强大且具有成本效益的方法来生成高质量的参考基因组。我们使用太平洋生物科学公司(PacBio)的单分子实时测序技术,报告了二倍体林地草莓( Fragaria vesca )的近乎完整基因组。该组装的 contig N50 长度约为 790 万碱基对(Mb),代表了上一版本的约 300 倍的改进。组装的绝大多数(>99.8%)使用来自 Bionano Genomics 的 2 套光学图谱锚定到 7 个假染色体上。我们获得了上一版 F. vesca 基因组中不存在的约 24.96 Mb 的序列,并生成了一个改进的注释,其中包括 1496 个新基因。比较共线性分析揭示了在之前发布的 F. vesca 基因组的每个染色体中存在的许多大规模的支架错误。

结论

我们的结果强调了需要改进现有的基于短读长的参考基因组。此外,我们展示了基因组质量如何影响用于解决基础和应用生物学问题的常用分析。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1258/5801600/bdedc52176cd/gix124fig1.jpg

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